Temple syndrome

Title

Other Names:

Temple syndrome due to maternal uniparental disomy of chromosome 14; Maternal uniparental disomy of chromosome 14; UPD(14)mat

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 96184

Definition

Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).

Visit the Orphanet disease page for more resources.

Last updated: 4/26/2018

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Bifid uvula		0000193
Cleft palate	Cleft roof of mouth	0000175
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased testicular size	Small testes Small testis [ more ]	0008734
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Maturity-onset diabetes of the young		0004904
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Clinodactyly	Permanent curving of the finger	0030084
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Flexion contracture	Flexed joint that cannot be straightened	0001371
Frontal bossing		0002007
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypercholesterolemia	Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol [ more ]	0003124
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Motor delay		0001270
Overweight		0025502
Premature birth	Premature delivery of affected infants Preterm delivery [ more ]	0001622
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Recurrent otitis media	Recurrent middle ear infection	0000403
Relative macrocephaly	Relatively large head	0004482
Scoliosis	Abnormal curving of the spine	0002650
Short foot	Short feet Small feet [ more ]	0001773
Short philtrum		0000322
Short stature	Decreased body height Small stature [ more ]	0004322
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Small hand	Disproportionately small hands	0200055
Sporadic	No previous family history	0003745
Truncal obesity		0001956
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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